{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,3]],"date-time":"2026-08-03T19:07:03Z","timestamp":1785784023135,"version":"3.56.0"},"reference-count":39,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2023,7,19]],"date-time":"2023-07-19T00:00:00Z","timestamp":1689724800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82101469"],"award-info":[{"award-number":["82101469"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005089","name":"Beijing Municipal Natural Science Foundation","doi-asserted-by":"publisher","award":["7194323"],"award-info":[{"award-number":["7194323"]}],"id":[{"id":"10.13039\/501100005089","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Neuropathology"],"published-print":{"date-parts":[[2024,4]]},"abstract":"<jats:p>The mutations of the feline leukemia virus subgroup C receptor\u2010related protein 1 (<jats:italic>FLVCR1<\/jats:italic>) cause ataxia with retinitis pigmentosa. Recent studies indicated a large variation in the phenotype of <jats:italic>FLVCR1<\/jats:italic>\u2010associated diseases. In this report, we describe an adult male who manifested first with tremors in his third decade, followed by retinitis pigmentosa, sensory ataxia, and sensory neuropathy in his fourth decade. While retinitis pigmentosa and sensory ataxia are well\u2010recognized features of FLVCR1\u2010associated disease, tremor is rarely described. Whole\u2010exome sequencing revealed novel compound heterozygous pathogenic <jats:italic>FLVCR1<\/jats:italic> variants: c.498\u2009G\u2009&gt;\u2009A; p.(Trp166*) and c.369\u2009T\u2009&gt;\u2009G; p.(Phe123Leu). In addition, we have highlighted the ultrastructural abnormalities of the sural biopsy in this patient.<\/jats:p>","DOI":"10.1111\/neup.12936","type":"journal-article","created":{"date-parts":[[2023,7,20]],"date-time":"2023-07-20T05:20:24Z","timestamp":1689830424000},"page":"87-95","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Novel mutations in <scp><i>FLVCR1<\/i><\/scp> cause tremors, sensory neuropathy with retinitis pigmentosa"],"prefix":"10.1111","volume":"44","author":[{"given":"Zhenyu","family":"Li","sequence":"first","affiliation":[{"name":"Department of Neurology Peking University First Hospital  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yize","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Neurology Peking University First Hospital  Beijing 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